Clinical electrophysiology and visual outcome in optic nerve hypoplasia

McCulloch, Daphne L.; Garcia-Filion, Pamela; Fink, Cassandra; Chaplin, Caroline; Borchert, Mark

doi:10.1136/bjo.2009.161117

Cited by 28 publications

(12 citation statements)

References 31 publications

(38 reference statements)

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“…The DD/DM ratio of optic nerves with normal vision is estimated to be greater than 0.35 [7, 54, 55]. DD/DM ratios less than 0.35 correlate, albeit imperfectly, with vision outcomes [56]. Most patients with DD/DM ratios less than 0.35 have generally been described as having ONH, although normal vision occurs in some with DD/DM ratios of 0.30 to 0.35.…”

Section: Clinical Diagnosismentioning

confidence: 99%

“…2a) and may include hypoplasia and partial or complete agenesis of the corpus callosum. Corpus callosum hypoplasia is the most prevalent [7, 8, 56]. While corpus callosum hypoplasia is commonly associated with absence of the septum pellucidum, the latter cannot serve as a proxy for corpus callosum hypoplasia as partial agenesis of the corpus callosum may occur regardless of the septum pellucidum status.…”

Section: Clinical Associationsmentioning

confidence: 99%

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Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Garcia-Filion

Borchert

2012

Curr Treat Options Neurol

108

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Opinion statement Background Optic nerve hypoplasia (ONH) has developed into a leading cause of congenital blindness. The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as “septo-optic dysplasia” or “de Morsier’s syndrome.” More recent studies have suggested these associations are independent of one another. This review provides an assessment of the historical and recent evidence linking neuroradiologic, endocrinologic and developmental morbidity in patients with ONH. The prenatal risk factors, heritability, and genetic mutations associated with ONH are described. Results Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt, not Georges de Morsier. De Morsier never described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Hypopituitarism is caused by hypothalamic dysfunction. This, and other more recently identified associations with ONH, such as developmental delay and autism, are independent of septum pellucidum development. Other common neuroradiographic associations such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia may have prognostic significance. The predominant prenatal risk factors for ONH are primiparity and young maternal age. Presumed risk factors such as prenatal exposure to drugs and alcohol are not supported by scrutiny of the literature. Heritability and identified gene mutations in cases of ONH are rare. Conclusion Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum. “Septo-optic dysplasia” and “de Morsier’s syndrome” are historically inaccurate and clinically misleading terms.

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Section: Clinical Diagnosismentioning

confidence: 99%

Section: Clinical Associationsmentioning

confidence: 99%

Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

Garcia-Filion

Borchert

2012

Curr Treat Options Neurol

108

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“…Children in the registry are followed annually through 5 years of age. Clinical data collected include initial and annual visual acuity, optic nerve size measured from fundus photographs using the ratio of horizontal disk diameter to the disk–macula distance (DD/DM), 20 and comprehensive endocrine testing, including both free thyroxine (T4) and TSH measurements to evaluate thyroidal status. Endocrine data are collected from the treating endocrinologist, and repeat thyroid function testing is performed at least once for the study.…”

Section: Methodsmentioning

confidence: 99%

“…19 Furthermore, hypothyroidism may affect vision more in the setting of coexisting optic nerve disease than it does in isolation. For example, our clinical registry study of subjects with ONH demonstrates that most children with ONH experience some degree of spontaneous improvement in vision during the first few years of life 4,20 ; we hypothesize that low circulating TH levels may preclude vision improvement in previously compromised optic nerves that are already at risk for reduced vision.…”

mentioning

confidence: 93%

Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: Associations with hypothyroidism and vision

Fink

Vedin

Garcia-Filion

et al. 2012

Journal of American Association for Pediatric Ophthalmology and

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Purpose To assess in children with optic nerve hypoplasia (ONH) whether newborn screening (NBS) thyroid-stimulating hormone (TSH) measurements can detect central hypothyroidism and whether newborn TSH or subsequent thyroidal status is associated with visual function. Methods A subset of patients in the registry of children with ONH at Children’s Hospital Los Angeles who were born in California was used to make a retrospective comparison of NBS TSH levels and subsequent postnatal thyroid status. Another subset of registry subjects with vision and thyroid status data at age 5 years was assessed for the relationship of vision to NBS TSH levels and ultimate thyroidal status. Results A total of 135 subjects from the ONH registry were included in this study. Approximately 50% of subjects in each analysis were hypothyroid. Those diagnosed with hypothyroidism had lower median NBS TSH levels than did euthyroid subjects (3.2 vs 4.5 μIU/mL; P = 0.006) and significantly worse quantitative vision outcomes (median visual acuity, logMAR 3.0 vs 1.0; P = 0.039). Receiver operating characteristic analysis suggested an optimal NBS TSH cut-point of 3.3 μIU/mL. Serum TSH over this level (30/43) was associated with relatively better vision outcomes (median visual acuity, logMAR 1.2 vs 3.3; P = 0.04). Conclusions Children with ONH and lower NBS TSH levels are more likely to have central hypothyroidism and less likely to experience good vision than those with higher NBS TSH levels.

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“…In normal children, the ratio of the horizontal DD to the distance between the macula and the temporal edge of the disc (DM) is greater than 0.35 (25,38,39) (Fig. DD/DM ratios less than 0.35 somewhat correlate with vision outcomes (40). DD/DM ratios less than 0.35 somewhat correlate with vision outcomes (40).…”

Section: Clinical Diagnosismentioning

confidence: 99%